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Revealed: The mutated gene lurking in East Tyrone people’s DNA

Testing for the gene in Mid-Ulster has already uncovered some startling results

Testing for the gene in Mid-Ulster has already uncovered some startling results

BY ANTHONY QUINN

SCIENTISTS screening the East Tyrone population for a genetic disorder that results in gigantism have uncovered six new victims of the inherited condition.

The team of international researchers have been testing the local population at a series of mobile screening units in the belief that this part of Tyrone is a hotspot for the rare illness.

They have revealed that to date a surprising number of people have tested positive as carriers of the genetic defect, and have even uncovered six new cases of ‘gigantism’.

Killeeshil man, Brendan Holland, who suffers from the condition and has been instrumental in organising the research, said the aim of the screening was to identify carriers so that they and their families can access treatment to prevent health problems in the future.

“We screened a large number of people at Cookstown and based on the findings, the researchers estimate that between 5 and 10 percent of the local population are carrying the mutated gene”, he said.

“This is a very high proportion of the population. In addition, we have found six new sufferers of the condition.

“These are young people whose parents obviously suspected they were suffering from the condition and brought them along to be tested.

“It is vastly reassuring that these young people will now be able to access treatment before the condition can produce health problems.

“Hopefully, they will not have to go through what I had to endure as part of the illness.”

A spokesperson for the researchers commended the parents for bringing their children to the screening unit.

Further screening for the gene will take place at Dungannon’s Tesco car park on March 1 and 2, from 8am to 8pm.

Screening involves giving a saliva sample by spitting into a tube and takes about 10 minutes.

While most people who carry the gene do not experience any health problems, it can lead to acromegaly – a condition in which a benign enlargement of the pituitary gland causes excess growth of muscles, cartilage and bones. This excess growth can lead to other complications, including loss of side vision and hormone disturbances.It is estimated that over two-thirds of those who carry the mutation do not develop the condition and therefore will have no idea they’ve got it.

The scientific search for the gene was instigated two years ago by Mr Holland, who is 6 feet 9 inches, and a former sufferer of pituary adenoma.

Mr Holland, the subject of a BBC documentary aired in 2011, took part in genetic research which shows that he is genetically related to the Irish Giant, Charles Byrne, who found fame in the 1780s exhibiting himself as a curiosity or ‘freak’.

Sophisticated genetic calculations identified that Byrne and the living patients who were found to carry the gene shared a common ancestor, and that the mutation is about 1,500 years old.

 
 
 

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